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Author Correction: Establishment, characterization, and genetic profiling of patient-derived osteosarcoma cells from a patient with retinoblastoma.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Correction to: Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 9, p. 1535, doi. 10.1093/jnci/djae174
- Publication type:
- Article
Case report: Clinical, genetic and immunological characterization of a novel XK variant in a patient with McLeod syndrome.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1421952
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- Publication type:
- Article
Case report: Ovarian mucinous tumor with a mural nodule of liposarcoma: a rare case.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1436854
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- Publication type:
- Article
Engineering high amylose and resistant starch in maize by CRISPR/Cas9-mediated editing of starch branching enzymes.
- Published in:
- Crop Journal (2095-5421), 2024, v. 12, n. 4, p. 1252, doi. 10.1016/j.cj.2024.06.007
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- Publication type:
- Article
First insight into the whole genome sequence variations in clarithromycin resistant Helicobacter pylori clinical isolates in Russia.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70977-4
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- Publication type:
- Article
A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome.
- Published in:
- 2021
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- Publication type:
- letter
Fine mapping and candidate identification of SST, a gene controlling seedling salt tolerance in rice ( Oryza sativa L.).
- Published in:
- Euphytica, 2015, v. 205, n. 1, p. 269, doi. 10.1007/s10681-015-1453-9
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- Publication type:
- Article
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.
- Published in:
- Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-023-05620-w
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- Publication type:
- Article
Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.
- Published in:
- Pediatric Surgery International, 2020, v. 36, n. 11, p. 1309, doi. 10.1007/s00383-020-04751-8
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- Publication type:
- Article
Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 4, p. 873, doi. 10.1007/s00381-019-04399-3
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- Publication type:
- Article
A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.
- Published in:
- Acta Diabetologica, 2024, v. 61, n. 2, p. 189, doi. 10.1007/s00592-023-02192-y
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- Publication type:
- Article
Construction and Mechanism of tectb Inner Ear Gene Knockout Line in Zebrafish.
- Published in:
- Journal of Laser Biology / Acta Laser Biology Sinica, 2024, v. 33, n. 2, p. 143, doi. 10.3969/j.issn.1007-7146.2024.02.006
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- Publication type:
- Article
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006247
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- Publication type:
- Article
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006248
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- Publication type:
- Article
Strong Comma-Free Codes in Genetic Information.
- Published in:
- Bulletin of Mathematical Biology, 2017, v. 79, n. 8, p. 1796, doi. 10.1007/s11538-017-0307-0
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- Publication type:
- Article
全外显子测序盘状半月板的病因学分析.
- Published in:
- Chinese Journal of Tissue Engineering Research / Zhongguo Zuzhi Gongcheng Yanjiu, 2023, v. 27, n. 2, p. 192, doi. 10.12307/2022.931
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- Publication type:
- Article
Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease.
- Published in:
- Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2021, v. 79, n. 4, p. 373, doi. 10.29021/spdv.79.4.1409
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- Publication type:
- Article
MLH1 Exon 12 Gene Deletion Leading to Lynch Syndrome: A Case Report.
- Published in:
- Oncology Research & Treatment, 2021, v. 44, n. 7-8, p. 414, doi. 10.1159/000516659
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- Publication type:
- Article
Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation.
- Published in:
- Neonatal Medicine, 2020, v. 27, n. 4, p. 197, doi. 10.5385/nm.2020.27.4.197
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- Publication type:
- Article
Generation of a Syngeneic Heterozygous ACVRL1 (wt/mut) Knockout iPS Cell Line for the In Vitro Study of HHT2-Associated Angiogenesis.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 12, p. 1600, doi. 10.3390/cells12121600
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- Publication type:
- Article
Establishment and Molecular Characterization of Two Patient-Derived Pancreatic Ductal Adenocarcinoma Cell Lines as Preclinical Models for Treatment Response.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 4, p. 587, doi. 10.3390/cells12040587
- By:
- Publication type:
- Article
The Effect of Mutation in Lipopolysaccharide Biosynthesis on Bacterial Fitness.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 20, p. 3249, doi. 10.3390/cells11203249
- By:
- Publication type:
- Article
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1060547
- By:
- Publication type:
- Article
Biallelic, Selectable, Knock-in Targeting of CCR5 via CRISPR-Cas9 Mediated Homology Directed Repair Inhibits HIV-1 Replication.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.821190
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- Publication type:
- Article
Isavuconazole nonwildtype Aspergillus fumigatus isolates from a global surveillance study display alterations in multiple genes involved in the ergosterol biosynthesis pathway not previously associated with resistance to other azoles.
- Published in:
- Mycoses, 2021, v. 64, n. 10, p. 1279, doi. 10.1111/myc.13267
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- Publication type:
- Article
Phaeohyphomycosis caused by Phialophora americana with CARD9 mutation and 20‐year literature review in China.
- Published in:
- Mycoses, 2019, v. 62, n. 10, p. 908, doi. 10.1111/myc.12962
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- Publication type:
- Article
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 625, doi. 10.1038/jhg.2015.92
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- Publication type:
- Article
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7
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- Publication type:
- Article
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 213, doi. 10.1038/jhg.2015.2
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- Publication type:
- Article
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 12, p. 687, doi. 10.1038/jhg.2014.91
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- Publication type:
- Article
Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 501, doi. 10.1038/jhg.2013.30
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- Publication type:
- Article
Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa.
- Published in:
- International Journal of Dermatology, 2023, v. 62, n. 4, p. e204, doi. 10.1111/ijd.16425
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- Publication type:
- Article
Sjögren–Larsson syndrome caused by novel mutations in ALDH3A2 gene.
- Published in:
- International Journal of Dermatology, 2023, v. 62, n. 1, p. e2, doi. 10.1111/ijd.16403
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- Publication type:
- Article
A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation.
- Published in:
- International Journal of Dermatology, 2022, v. 61, n. 8, p. e293, doi. 10.1111/ijd.16021
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- Publication type:
- Article
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria.
- Published in:
- 2017
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- Publication type:
- Case Study
Increased Radiosensitivity of Solid Tumors Harboring ATM and BRCA1/2 Mutations.
- Published in:
- Cancer Research & Treatment, 2022, v. 54, n. 1, p. 54, doi. 10.4143/crt.2020.1247
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- Publication type:
- Article
Characterization and Fine Mapping of a Rice Leaf-Rolling Mutant Deficient in Commissural Veins.
- Published in:
- Crop Science, 2017, v. 57, n. 5, p. 2595, doi. 10.2135/cropsci2017.04.0227
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- Publication type:
- Article
Genetic subgroup of small ruminant lentiviruses that infects sheep homozygous for TMEM154 frameshift deletion mutation A<sup>4Δ</sup>53.
- Published in:
- Veterinary Research, 2015, v. 46, n. 1, p. 1, doi. 10.1186/s13567-015-0162-7
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- Publication type:
- Article
Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37277-3
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- Publication type:
- Article
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35724-1
- By:
- Publication type:
- Article
Detection of CALR Mutations Using High Resolution Melting Curve Analysis (HRMA); Application on a Large Cohort of Greek ET and MF Patients.
- Published in:
- Mediterranean Journal of Hematology & Infectious Diseases, 2019, v. 11, n. 1, p. 1, doi. 10.4084/MJHID.2019.009
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- Publication type:
- Article
Ring finger 43 Hot-spot frameshift mutation G659V in colorectal cancer patients: Report from a tertiary cancer care hospital in North India.
- Published in:
- International Journal of Applied & Basic Medical Research, 2024, v. 14, n. 1, p. 17, doi. 10.4103/ijabmr.ijabmr_403_23
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- Publication type:
- Article
Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report.
- Published in:
- Orthopaedic Surgery, 2022, v. 14, n. 9, p. 2386, doi. 10.1111/os.13383
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- Publication type:
- Article
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report.
- Published in:
- International Medical Case Reports Journal, 2021, v. 14, p. 307, doi. 10.2147/IMCRJ.S309668
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- Publication type:
- Article
More discussion of minimalist species descriptions and clarifying some misconceptions contained in Meier et al. 2021.
- Published in:
- ZooKeys, 2022, n. 1110, p. 135, doi. 10.3897/zookeys.1110.85491
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- Publication type:
- Article
Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.
- Published in:
- Cardiology in the Young, 2015, v. 25, n. 2, p. 376, doi. 10.1017/S1047951114000213
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- Publication type:
- Article
Child - onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13.
- Published in:
- European Journal of Haematology, 2018, v. 101, n. 2, p. 191, doi. 10.1111/ejh.13094
- By:
- Publication type:
- Article
A novel type of +2-base pair frameshift CALR mutation in a patient with myeloproliferative neoplasm.
- Published in:
- European Journal of Haematology, 2018, v. 101, n. 2, p. 216, doi. 10.1111/ejh.13076
- By:
- Publication type:
- Article
High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.
- Published in:
- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2511-2
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- Publication type:
- Article